Paralogue Annotation for RYR1 residue 1039

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1039
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1039

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R1051PCatecholaminergic polymorphic ventricular tachycarMedium7 19216760, 24025405

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.



RYR1VQDIPARRNPRLVPYRLLDEATKRSNRDSL>C<QAVRTLLGYGYNIEPPDQEP-SQVEN-QSR1067
RYR2QQDVKNRRNPRLVPYTLLDDRTKKSNKDSL>R<EAVRTLLGYGYNLEAPDQDHAARAEVCSGT1081
RYR3QQDLKNKRNPRLVPYALLDERTKKSNRDSL>R<EAVRTFVGYGYNIEPSDQEL-ADSAVEKVS1067
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 1039 for RYR1.